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Pregled bibliografske jedinice broj: 524831

Biochemical, neuropathological, and neuroimaging characteristics of early-onset Alzheimer's disease due to a novel PSEN1 mutation


Ringman, John M.; Gylys, Karen H.; Medina, Luis D.; Fox, Michelle; Kepe, Vladimir; Flores, Deborah L.; Apostolova, Liana G.; Barrio, Jorge R.; Small, Gary; Silverman, Daniel H. et al.
Biochemical, neuropathological, and neuroimaging characteristics of early-onset Alzheimer's disease due to a novel PSEN1 mutation // Neuroscience letters, 487 (2011), 3; 287-292 doi:10.1016/j.neulet.2010.10.039 (međunarodna recenzija, članak, znanstveni)


CROSBI ID: 524831 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
Biochemical, neuropathological, and neuroimaging characteristics of early-onset Alzheimer's disease due to a novel PSEN1 mutation

Autori
Ringman, John M. ; Gylys, Karen H. ; Medina, Luis D. ; Fox, Michelle ; Kepe, Vladimir ; Flores, Deborah L. ; Apostolova, Liana G. ; Barrio, Jorge R. ; Small, Gary ; Silverman, Daniel H. ; Siu, Erin ; Cederbaum, Stephen ; Hećimović, Silva ; Malnar, Martina ; Chakravertyg, Suma ; Goate, Alison M. ; Bird, Thomas D. ; Leverenz, James B.

Izvornik
Neuroscience letters (0304-3940) 487 (2011), 3; 287-292

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
Alzheimer’s disease ; PSEN1 ; S212Y ; amyloid imaging ; FDDNP ; cerebrospinal fluid ; neuropathology ; FDG ; Positron emission tomography ; tau ; beta-amyloid ; striatum

Sažetak
Familial Alzheimer’s disease (AD) due to PSEN1 mutations provides a unique opportunity to study the behavior of AD biomarkers in persons in whom the diagnosis is certain. Here we describe a 55 year-old woman with clinically probable AD and a novel PSEN1 mutation who underwent genetic, clinical, biochemical and imaging assessments, including nuclear imaging with FDDNP. Neuropsychological testing confirmed deficits in memory with more minor deficits in visuospatial and language function. CSF t-tau and p-tau181 were markedly elevated and A42 levels reduced. FDG-PET revealed hypometabolism in the left parietotemporal cortex. FDDNP-PET showed increased global binding of tracer in medial temporal and parietal lobes and in the head of the caudate and anterior putamen bilaterally. Her similarly affected brother died and the diagnosis of AD was confirmed neuropathologically. The striatum demonstrated amyloid pathology and marked neurofibrillary pathology beyond that typically seen in late-onset AD. A novel S212Y substitution in PSEN1 was present in the index patient and in her affected brother but not in an older unaffected sister. An in-vitro assay in which the S212Y mutation was introduced in cell culture confirmed that it was associated with increased production of A42. In this report we describe biochemical, imaging, and neuropathological changes in a pedigree with a novel PSEN1 mutation. This allows us to validate both the pathogenicity of this mutation as well as the indices used to assess AD and suggests that increased FDDNP binding in the striatum may be due to neurofibrillary pathology in this pedigree.

Izvorni jezik
Engleski

Znanstvena područja
Geologija, Temeljne medicinske znanosti



POVEZANOST RADA


Projekti:
098-0982522-2525 - Mehanizam djelovanja kolesterola u nastanku Alzheimerove bolesti (Katušić Hećimović, Silva, MZOS ) ( POIROT)

Ustanove:
Institut "Ruđer Bošković", Zagreb

Citiraj ovu publikaciju

Ringman, John M.; Gylys, Karen H.; Medina, Luis D.; Fox, Michelle; Kepe, Vladimir; Flores, Deborah L.; Apostolova, Liana G.; Barrio, Jorge R.; Small, Gary; Silverman, Daniel H. et al.
Biochemical, neuropathological, and neuroimaging characteristics of early-onset Alzheimer's disease due to a novel PSEN1 mutation // Neuroscience letters, 487 (2011), 3; 287-292 doi:10.1016/j.neulet.2010.10.039 (međunarodna recenzija, članak, znanstveni)
Ringman, J., Gylys, K., Medina, L., Fox, M., Kepe, V., Flores, D., Apostolova, L., Barrio, J., Small, G. & Silverman, D. (2011) Biochemical, neuropathological, and neuroimaging characteristics of early-onset Alzheimer's disease due to a novel PSEN1 mutation. Neuroscience letters, 487 (3), 287-292 doi:10.1016/j.neulet.2010.10.039.
@article{article, year = {2011}, pages = {287-292}, DOI = {10.1016/j.neulet.2010.10.039}, keywords = {Alzheimer’s disease, PSEN1, S212Y, amyloid imaging, FDDNP, cerebrospinal fluid, neuropathology, FDG, Positron emission tomography, tau, beta-amyloid, striatum}, journal = {Neuroscience letters}, doi = {10.1016/j.neulet.2010.10.039}, volume = {487}, number = {3}, issn = {0304-3940}, title = {Biochemical, neuropathological, and neuroimaging characteristics of early-onset Alzheimer's disease due to a novel PSEN1 mutation}, keyword = {Alzheimer’s disease, PSEN1, S212Y, amyloid imaging, FDDNP, cerebrospinal fluid, neuropathology, FDG, Positron emission tomography, tau, beta-amyloid, striatum} }
@article{article, year = {2011}, pages = {287-292}, DOI = {10.1016/j.neulet.2010.10.039}, keywords = {Alzheimer’s disease, PSEN1, S212Y, amyloid imaging, FDDNP, cerebrospinal fluid, neuropathology, FDG, Positron emission tomography, tau, beta-amyloid, striatum}, journal = {Neuroscience letters}, doi = {10.1016/j.neulet.2010.10.039}, volume = {487}, number = {3}, issn = {0304-3940}, title = {Biochemical, neuropathological, and neuroimaging characteristics of early-onset Alzheimer's disease due to a novel PSEN1 mutation}, keyword = {Alzheimer’s disease, PSEN1, S212Y, amyloid imaging, FDDNP, cerebrospinal fluid, neuropathology, FDG, Positron emission tomography, tau, beta-amyloid, striatum} }

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE


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